這個基因編碼一種將甲基轉移到基因組DNA的胞嘧啶核苷酸的酶。這種蛋白是在DNA復制后維持甲基化模式的主要酶，并表現出對半甲基化DNA的偏好。DNA甲基化是哺乳動物表觀遺傳基因調控的重要組成部分。異常甲基化模式在人類腫瘤中發現并與發育異常有關。這種基因的變異與小腦共濟失調、耳聾和嗜睡、神經病變、遺傳感覺、類型IE有關。選擇性剪接導致多種轉錄變異。
This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants.